Advances in the pathogenesis and treatment of short stature in Noonan syndrome
10.3760/cma.j.issn.1673-4408.2023.07.007
- VernacularTitle:努南综合征身材矮小的发病机制和治疗研究进展
- Author:
Qing CAO
1
;
Su WU
;
Qianqi LIU
Author Information
1. 南京医科大学附属儿童医院儿童保健科 210008
- Keywords:
Noonan syndrome;
Short stature;
Pathogenesis;
Recombinant human growth hormone treatment
- From:
International Journal of Pediatrics
2023;50(7):456-459
- CountryChina
- Language:Chinese
-
Abstract:
Noonan syndrome(NS)is an inherited disease involving multiple systems.The main clinical manifestations include distinctive facial features, short stature, heart defects, developmental delay and chest deformity.Short stature, reported in up to 70% of NS patients, is one of the main reasons NS patients seek medical treatment.The pathogenesis is associated with the up-regulation of RAS-mitogen activated protein kinase(RAS-MAPK)signal pathway.Further study is needed for some further specific mechanisms.Recombinant human growth hormone(rhGH)therapy has been approved for NS patients with short stature and has achieved a good therapeutic effect.However, the knowledge of drug dosage, influencing factors, long-term efficacy and risk of rhGH treatment is still insufficient.This paper reviews the pathogenesis and treatment of short stature in NS, providing help for the treatment and management of the disease.
